| Project title: |
Discussion forum for a Biological Sciences Genetics and Genomics class |
| Investigator: |
Erica Pantages, PhD. Harvard University |
| Approval: |
11/2003 |
| Study Type: |
Recruitment |
| Description: |
The aim of this study is to better understand the demographic and medical characteristics of Registry members diagnosed with Congenital Myotonic Dystrophy. This preliminary study may prepare for and encourage future research in the area of Congenital Myotonic Dystrophy. |
| |
| Project title: |
Quality of Life in Persons with Disabilities |
| Investigator: |
Craig McDonald, MD. University of California, Davis |
| Approval: |
6/2003 |
| Study Type: |
Recruitment |
| Description: |
This project studied the frequency and severity of pain problems that occur in patients with disabilities, especially Myotonic Dystrophy and FSHD. |
| Results Available |
Symptom burden in persons with myotonic dystrophy and FSHD (2014) |
| |
| Project title: |
Position Effect and Vascular Adaptation in FSHD |
| Investigator: |
Rabi Tawil, MD. University of Rochester |
| Approval: |
2/2003 |
| Study Type: |
Recruitment |
| Description: |
This project studied the genes affected in FSHD, looking at how missing pieces of DNA affect the functions of nearby genes. |
| Results Available |
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy (2007) |
| |
| Project title: |
Functional Genomics of Myotonic Dystrophy |
| Investigator: |
Charles Thornton, MD. University of Rochester |
| Approval: |
2/2003 |
| Study Type: |
Recruitment |
| Description: |
This project measured how the abnormal Myotonic Dystrophy gene can cause muscle weakness, muscle stiffness and other signs of myotonic dystrophy. |
| Results Available |
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy (2006) |
| |
| Project title: |
Clinical Trial of Albuterol and Oxandrolone in FSH Dystrophy |
| Investigator: |
John Kissel, MD. The Ohio State University |
| Approval: |
2/2003 |
| Study Type: |
Recruitment |
| Description: |
In this study, two drugs with muscle building qualities were given alone or in combination to determine whether this approach is an effective treatment for people with FSHD. |